Craniofacial Defects and Cleft Lip and Palate

Clefts of the lip and/or palate (CLP) are common birth defects of complex etiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian, or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the etiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translation research.

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“…p63 activates IRF6 transcription through an enhancer element, variation within which increases susceptibility to cleft lip only. 68 …”

Section: Insights Into Molecular Pathogenesismentioning

confidence: 99%

“…(F) Fusion of the palatal shelves ultimately divides the oronasal space into separate oral and nasal cavities. Figure is modified with permission from REF 68 Copyright permission**…”

Section: Figurementioning

confidence: 99%

Cleft lip and palate: understanding genetic and environmental influences

et al. 2011

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“…Lip and palate development occurs very early in embryogenesis, with the lip forming first (complete by week 6), followed by the palate (complete around week 13) (134). In normal development, a variety of tissues are in place by week 4: The frontonasal prominence, paired maxillary processes, and paired mandibular processes surround the oral cavity.…”

Section: Introductionmentioning

confidence: 99%

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

Marazita

2012

Annu. Rev. Genom. Hum. Genet.

193

167

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Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future.

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“…Cleft lip and palate (CLP) is a relatively common congenital facial deformity that occurs during facial morphogenesis when the nasal and maxillary facial prominences on one or both sides of the face fail to fuse correctly around the 36th or 37th day of gestation (Thomason and Dixon, ; Weinberg et al, ; Lee et al, ; Marazita, ; Choi et al, ). During embryogenesis, the lip forms before the palate and deep lip defects impair the ability of the primary palate to close, resulting in unilateral or bilateral CLP defects to oronasal hard‐ and soft‐tissues (Seto‐Salvia and Stanier, ).…”

Section: Introductionmentioning

confidence: 99%

Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography

2015

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Bilateral cleft lip and palate (BCLP) is caused by a lack of merging of maxillary and nasal facial prominences during development and morphogenesis. BCLP is associated with congenital defects of the oronasal facial region that can impair ingestion, mastication, speech, and dentofacial development. Using cone beam computed tomography (CBCT) images, 7- to 18-year old individuals born with BCLP (n = 15) and age- and sex-matched controls (n = 15) were retrospectively assessed. Coordinate values of three-dimensional facial skeletal anatomical landmarks (n = 32) were measured from each CBCT image. Data were evaluated using principal coordinates analysis (PCOORD) and Euclidean Distance Matrix Analysis (EDMA). PCOORD axes 1-3 explain approximately 45% of the morphological variation between samples, and specific patterns of morphological differences were associated with each axis. Approximately, 30% of facial skeletal measures significantly differ by confidence interval testing (α = 0.10) between samples. While significant form differences occur across the facial skeleton, strong patterns of differences are localized to the lateral and superioinferior aspects of the nasal aperture. In conclusion, the BCLP deformity significantly alters facial skeletal morphology of the midface and oronasal regions of the face, but morphological differences were also found in the upper facial skeleton and to a lesser extent, the lower facial skeleton. This pattern of strong differences in the oronasal region of the facial skeleton combined with differences across the rest of the facial complex underscores the idea that bones of the craniofacial skeleton are integrated.

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Craniofacial Defects and Cleft Lip and Palate

Cited by 12 publications

References 19 publications

Cleft lip and palate: understanding genetic and environmental influences

Cleft lip and palate: understanding genetic and environmental influences

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

Bilateral cleft lip and palate: A morphometric analysis of facial skeletal form using cone beam computed tomography

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